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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 6
2003 1
2004 3
2005 5
2006 1
2007 1
2008 5
2009 8
2010 10
2011 3
2012 7
2013 10
2014 8
2015 10
2016 7
2017 9
2018 11
2019 13
2020 12
2021 4
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118 results
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Page 1
FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.
Robin JD, Jacome Burbano MS, Peng H, Croce O, Thomas JL, Laberthonniere C, Renault V, Lototska L, Pousse M, Tessier F, Bauwens S, Leong W, Sacconi S, Schaeffer L, Magdinier F, Ye J, Gilson E. Robin JD, et al. Among authors: sacconi s. Aging Cell. 2020 Mar;19(3):e13097. doi: 10.1111/acel.13097. Epub 2020 Jan 28. Aging Cell. 2020. PMID: 31991048 Free PMC article.
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Kyriakides T, Angelini C, Schaefer J, Sacconi S, Siciliano G, Vilchez JJ, Hilton-Jones D; European Federation of Neurological Societies. Kyriakides T, et al. Among authors: sacconi s. Eur J Neurol. 2010 Jun 1;17(6):767-73. doi: 10.1111/j.1468-1331.2010.03012.x. Epub 2010 Apr 5. Eur J Neurol. 2010. PMID: 20402744
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: sacconi s. Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19. Science. 2010. PMID: 20724583 Free PMC article.
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
Semplicini C, De Antonio M, Taouagh N, Béhin A, Bouhour F, Echaniz-Laguna A, Magot A, Nadaj-Pakleza A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Tard C, Zagnoli F, Hogrel JY, Hamroun D, Laforêt P; French Pompe Study Group. Semplicini C, et al. Among authors: sacconi s. J Inherit Metab Dis. 2020 Nov;43(6):1219-1231. doi: 10.1002/jimd.12272. Epub 2020 Jul 27. J Inherit Metab Dis. 2020. PMID: 32515844
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: sacconi s. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26. J Med Genet. 2019. PMID: 31243061 Free PMC article.
[E-Health and therapeutic innovation].
Sacconi S, Mehl J, Lenain C, Lofaso F, Taytard J. Sacconi S, et al. Med Sci (Paris). 2019 Mar;35 Hors série n° 1:42-45. doi: 10.1051/medsci/2019052. Epub 2019 Apr 3. Med Sci (Paris). 2019. PMID: 30943163 Free article. French. No abstract available.
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN18. LoRusso S, et al. Among authors: sacconi s. BMC Neurol. 2019 Sep 10;19(1):224. doi: 10.1186/s12883-019-1452-x. BMC Neurol. 2019. PMID: 31506080 Free PMC article.
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V. Savarese M, et al. Among authors: sacconi s. Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30. Neuromuscul Disord. 2015. PMID: 25891276 Free PMC article.
118 results
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